USP49
ubiquitin specific peptidase 49
Summary
Enables histone binding activity and peptidase activity. Involved in mRNA splicing, via spliceosome; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and protein deubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2532910973 | 6:41,766,579 | T/C | — | uncertain significance |
| rs2532910980 | 6:41,766,580 | G/T | — | uncertain significance |
| rs751993634 | 6:41,767,627 | T/G | — | uncertain significance |
| rs2532912951 | 6:41,767,662 | A/G | — | uncertain significance |
| rs1454222205 | 6:41,771,562 | C/T | — | uncertain significance |
| rs1773061695 | 6:41,771,575 | T/G | — | uncertain significance |
| rs759941956 | 6:41,773,436 | G/C | — | uncertain significance |
| rs557155189 | 6:41,773,538 | T/C | — | uncertain significance |
| rs2532924191 | 6:41,773,601 | G/A | — | uncertain significance |
| rs778549719 | 6:41,773,710 | T/C | — | uncertain significance |
| rs142309876 | 6:41,773,728 | A/G | — | uncertain significance |
| rs774384036 | 6:41,773,736 | C/A | — | uncertain significance |
| rs778956931 | 6:41,773,765 | A/C | — | uncertain significance |
| rs1187583988 | 6:41,773,787 | G/A | — | uncertain significance |
| rs1217488122 | 6:41,773,991 | C/A | — | uncertain significance |
| rs1313741545 | 6:41,774,006 | G/C | — | uncertain significance |
| rs779233658 | 6:41,774,007 | T/G | — | uncertain significance |
| rs1014488917 | 6:41,774,019 | C/G | — | uncertain significance |
| rs750131155 | 6:41,774,039 | G/T | — | uncertain significance |
| rs770172987 | 6:41,774,060 | G/A | — | uncertain significance |
| rs760185846 | 6:41,774,139 | G/C | — | uncertain significance |
| rs200523441 | 6:41,774,165 | C/G | — | uncertain significance |
| rs1773132278 | 6:41,774,171 | T/G | — | likely benign |
| rs762221068 | 6:41,774,178 | T/C | — | uncertain significance |
| rs1391364504 | 6:41,774,208 | G/A | — | uncertain significance |
| rs1192963519 | 6:41,774,261 | G/A | — | uncertain significance |
| rs752915476 | 6:41,774,300 | G/T | — | uncertain significance |
| rs111948785 | 6:41,774,340 | G/T | — | benign |
| rs2532926453 | 6:41,774,346 | C/T | — | uncertain significance |
| rs146399907 | 6:41,774,385 | G/T | — | uncertain significance |
| rs748987308 | 6:41,774,400 | C/T | — | uncertain significance |
| rs937247494 | 6:41,774,434 | T/G | — | uncertain significance |
| rs144313199 | 6:41,774,562 | C/T | — | uncertain significance |
| rs148441118 | 6:41,774,568 | C/T | — | uncertain significance |
| rs374334661 | 6:41,774,619 | C/T | — | uncertain significance |
| rs10807268 | 6:41,777,591 | A/T | intron variant | — |
| rs79241275 | 6:41,777,750 | C/A | — | — |
| rs62396748 | 6:41,782,007 | A/G | intron variant | — |
| rs28539150 | 6:41,786,435 | A/G | regulatory region variant | — |
| rs9471676 | 6:41,815,192 | C/T | intron variant | — |
| rs9462746 | 6:41,816,279 | T/C | — | — |
| rs6458247 | 6:41,820,654 | A/G | intron variant | — |
| rs62396757 | 6:41,836,815 | A/G | intron variant | — |
| rs566752434 | 6:41,837,087 | C/T | — | — |
| rs146006548 | 6:41,851,532 | G/A | intron variant | — |
| rs12195503 | 6:41,863,743 | T/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.